Variant report

Variant	nsv822324
Chromosome Location	chr3:163077539-163079707
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:163077613-163077856	HepG2	liver:	n/a	n/a
2	EP300	chr3:163079176-163080637	SK-N-SH	brain:	n/a	chr3:163079783-163079797
3	EP300	chr3:163079401-163079648	SK-N-SH_RA	brain:	n/a	n/a
4	GATA2	chr3:163079146-163080402	SH-SY5Y	brain:	n/a	chr3:163079987-163079996 chr3:163080183-163080200 chr3:163080182-163080191
5	GATA3	chr3:163079670-163080394	SK-N-SH	brain:	n/a	chr3:163079987-163079996 chr3:163080183-163080200 chr3:163080182-163080191
6	GATA3	chr3:163079688-163080376	SK-N-SH	brain:	n/a	chr3:163079987-163079996 chr3:163080183-163080200 chr3:163080182-163080191
7	GATA3	chr3:163079442-163080401	SH-SY5Y	brain:	n/a	chr3:163079987-163079996 chr3:163080183-163080200 chr3:163080182-163080191
8	IRF1	chr3:163079204-163079556	K562	blood:	n/a	n/a
9	POLR2A	chr3:163079272-163079567	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr3:163079414-163079461	MCF-7	breast:	n/a	n/a
11	RAD21	chr3:163079438-163079699	SK-N-SH_RA	brain:	n/a	n/a
12	RAD21	chr3:163079349-163079579	SK-N-SH_RA	brain:	n/a	n/a
13	YY1	chr3:163079329-163079548	SK-N-SH_RA	brain:	n/a	n/a
14	ZNF384	chr3:163079369-163079711	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SI-4	chr3:163079232-163079351	ENSG00000241369

Variant related genes	Relation type
CT64	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555212327	chr3:163079023-163079024	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs12106974	chr3:163079045-163079046	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs573340644	chr3:163079049-163079050	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs552880612	chr3:163079062-163079063	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs573036624	chr3:163079063-163079064	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs541921832	chr3:163079089-163079090	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs113153835	chr3:163079134-163079135	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs540593804	chr3:163079140-163079141	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs561803133	chr3:163079145-163079146	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs192630307	chr3:163079146-163079147	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs565539182	chr3:163079160-163079161	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs184833797	chr3:163079222-163079223	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs111622663	chr3:163079251-163079252	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
14	rs147276151	chr3:163079289-163079290	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
15	rs114956243	chr3:163079309-163079310	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
16	rs13075728	chr3:163079336-163079337	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
17	rs369936659	chr3:163079337-163079338	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
18	rs13075729	chr3:163079338-163079339	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
19	rs13075871	chr3:163079359-163079360	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs59958993	chr3:163079361-163079362	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs62293464	chr3:163079363-163079364	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs533420072	chr3:163079383-163079384	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs188382605	chr3:163079395-163079396	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs560517130	chr3:163079416-163079417	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs544227235	chr3:163079424-163079425	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs549181287	chr3:163079481-163079482	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs568980195	chr3:163079498-163079499	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs537951163	chr3:163079517-163079518	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs372953957	chr3:163079518-163079519	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs4021212	chr3:163079532-163079533	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs371599537	chr3:163079536-163079537	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs571654410	chr3:163079616-163079617	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163079000-163079600	Active TSS	Hela-S3	cervix

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